R671W (p.Arg671Trp) variant of TERT (Telomerase reverse transcriptase)
R671W (p.Arg671Trp) in TERT (Telomerase reverse transcriptase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R671W (p.Arg671Trp) variant details
- p.Arg671Trp
- rs1060503011
- ClinGen CA16611699
- cosmic curated COSV57246
- ClinVar RCV001508166
- Pathogenic/Likely pathogenic
- Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; Dys
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.58
- AlphaMissense 0.13
- MetaLR 0.93
- MetaSVM 0.31
- CADD 22.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmona)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. (PMID 34890115)
- Cited in: Dyskeratosis Congenita and Related Telomere Biology Disorders. (PMID 20301779)